Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000516835 | SCV000612863 | benign | not specified | 2017-02-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001513039 | SCV001720572 | benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004553120 | SCV004751771 | likely benign | COL18A1-related disorder | 2019-06-15 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |